[Sjögren-Larsson syndrome: a novel mutation in a Moroccan child].
Sjögren-Larsson syndrome is a very rare inherited neurocutaneous disorder caused by a deficiency of microsomal enzyme fatty aldehyde dehydrogenase (FALDH). The authors report a case of typical Sjögren-Larsson syndrome in a 7-year-old Moroccan child who presented with classical symptoms (congenital ichthyosis, mental retardation, and spastic paraparesis) and epilepsy. The genetic study revealed a new mutation in the FALDH gene mapped to chromosome 17, consisting in a G109A substitution in exon 2.
Rafai
M A
MA
Service de neurologie, explorations fonctionnelles, CHU Ibn Rochd, quartier des Hôpitaux, Casablanca, Maroc. mo.mi2@caramail.com
Boulaajaj
F Z
FZ
Seito
A
A
Suga
Y
Y
Slassi
I
I
Fadel
H
H
D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D009018:Morocco; D009154:Mutation; D010375:Pedigree
D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase